Characterization of a prenatally diagnosed de novo der(X)t(X;Y)(q27;q11.23) of fetus
Journal of Genetic Medicine
;
: 16-21, 2014.
Artigo
em Inglês
| WPRIM
| ID: wpr-7133
ABSTRACT
A 31-year-old woman, who was pregnant with twins, underwent chorionic villus sampling because of increased nuchal translucency in one of the fetuses. Cytogenetic analysis showed a normal karyotype in the fetus with increased nuchal translucency. However, the other fetus, with normal nuchal translucency, had a derivative X chromosome (der(X)). For further analysis, fluorescence in situ hybridization (FISH) and additional molecular studies including fragile X analysis were performed. FISH analysis confirmed that the Y chromosome was the origin of extra segment of the der(X). The X-chromosome breakpoint was determined to be at Xq27 by FMR1 CGG repeat analysis, and the Y-chromosome breakpoint was determined to be at Yq11.23 by the Y chromosome microdeletion study. To predict the fetal outcome, the X-inactivation pattern was examined, and it revealed non-random X inactivation of the der(X). To the best of our knowledge, the identification of an unbalanced Xq;Yq translocation at prenatal diagnosis has never been reported. This study was performed to identify precise breakpoints and the X-inactivation pattern as well as to provide the parents with appropriate genetic counseling.
Texto completo:
DisponíveL
Índice:
WPRIM (Pacífico Ocidental)
Assunto principal:
Pais
/
Diagnóstico Pré-Natal
/
Gêmeos
/
Cromossomo X
/
Cromossomo Y
/
Amostra da Vilosidade Coriônica
/
Hibridização In Situ
/
Análise Citogenética
/
Medição da Translucência Nucal
/
Inativação do Cromossomo X
Tipo de estudo:
Estudo diagnóstico
/
Estudo prognóstico
Limite:
Adulto
/
Feminino
/
Humanos
/
Gravidez
Idioma:
Inglês
Revista:
Journal of Genetic Medicine
Ano de publicação:
2014
Tipo de documento:
Artigo
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